HGVS | Genome Assembly |
---|---|
NC_000007.14:g.19117025_19117042del , CM000669.2:g.19117025_19117042del | GRCh38 |
NC_000007.13:g.19156648_19156665del , CM000669.1:g.19156648_19156665del | GRCh37 |
NC_000007.12:g.19123173_19123190del | NCBI36 |
NG_008114.1:g.5631_5648del | |
NG_008114.2:g.5631_5648del |
HGVS | Amino-acid change | |
---|---|---|
ENST00000242261.6:c.280_297del MANE Select | ENSP00000242261.5:p.Ser94_Ser99del | |
ENST00000242261.5:c.280_297del | ENSP00000242261.5:p.Ser94_Ser99del | |
ENST00000354571.5:c.77_94del | ||
NM_000474.3:c.280_297del | NP_000465.1:p.Ser94_Ser99del | |
XM_011515496.1:c.280_297del | XP_011513798.1:p.Ser94_Ser99del | |
NR_149001.1:n.631_648del | ||
NM_000474.4:c.280_297del MANE Select | NP_000465.1:p.Ser94_Ser99del | |
NR_149001.2:n.595_612del |